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Genetics of Congenital Heart Disease

Biomolecules (Basel, Switzerland), 2019-12, Vol.9 (12), p.879 [Peer Reviewed Journal]

2019 by the authors. 2019 ;ISSN: 2218-273X ;EISSN: 2218-273X ;DOI: 10.3390/biom9120879 ;PMID: 31888141

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  • Title:
    Genetics of Congenital Heart Disease
  • Author: Williams, Kylia ; Carson, Jason ; Lo, Cecilia
  • Subjects: Heart Defects, Congenital - diagnosis ; Heart Defects, Congenital - etiology ; Heart Defects, Congenital - genetics ; Humans ; Review
  • Is Part Of: Biomolecules (Basel, Switzerland), 2019-12, Vol.9 (12), p.879
  • Description: Congenital heart disease (CHD) is one of the most common birth defects. Studies in animal models and humans have indicated a genetic etiology for CHD. About 400 genes have been implicated in CHD, encompassing transcription factors, cell signaling molecules, and structural proteins that are important for heart development. Recent studies have shown genes encoding chromatin modifiers, cilia related proteins, and cilia-transduced cell signaling pathways play important roles in CHD pathogenesis. Elucidating the genetic etiology of CHD will help improve diagnosis and the development of new therapies to improve patient outcomes.
  • Publisher: Switzerland: MDPI
  • Language: English
  • Identifier: ISSN: 2218-273X
    EISSN: 2218-273X
    DOI: 10.3390/biom9120879
    PMID: 31888141
  • Source: MEDLINE
    PubMed Central
    ROAD: Directory of Open Access Scholarly Resources
    ProQuest Central
    DOAJ Directory of Open Access Journals
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